What is genetic testing?
Genetic testing detects changes in chromosomes, genes or DNA, depending on the suspected disorder. Identifying these changes can be helpful to establish a clinical diagnosis and/or to understand the prognosis of a particular condition. Prior to testing, health care providers can offer important information about the benefits and limitations of genetic testing and possible outcomes of the test results. Genetic testing is voluntary, and the decision to be tested is personal and sometimes complex.
The results of a genetic test can confirm or rule out a suspected condition or help determine a person’s chance of developing or passing on a genetic disorder. Individuals at high risk for a genetic condition may live with uncertainty about their future and their children's future. A test result showing that a genetic change known to cause disease is not present can provide a sense of relief. A test result showing that an individual has a disease-causing gene change can also allow patients to make an informed decision about family planning.
Genetic testing may be recommended for the following reasons:
- To diagnose a genetic condition or syndrome.
- To determine what may have caused an already diagnosed genetic condition or syndrome.
- To identify individuals at risk for developing a genetic condition or syndrome.
- To identify individuals who are carriers of a genetic disease, often for reproductive health reasons.
- To help guide health care providers in offering the best treatments for an individual with a diagnosed genetic condition or syndrome.
Genetic testing provides only limited information about an inherited condition. Genetic tests often can't determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed. In some cases, genetic results can reveal unwanted information about other family members in addition to the person who is tested.
To determine if genetic testing may be beneficial, health care providers often review family history. Information from a patient’s family tree, including ethnicity (some genetic conditions occur more frequently in individual’s with specific ethnic backgrounds), can be just as important as information from a genetic test and may help in making a diagnosis.
Some insurance companies cover testing and some do not. Patients are encouraged to contact their insurance carrier prior to having a test performed. Genetic testing is typically a covered benefit when specific indications are met. Genetic testing costs anywhere from $200 to more than $5,000 depending on what tests are ordered. Out-of-pocket costs will likely depend on yearly deductibles and co-insurance. Most testing laboratories works closely with insurance carriers to provide patients a pre-verification and estimate of out-of-pockets costs before testing is started.
At this time, federal law protects a patient’s genetic information. The Genetic Information Nondiscrimination Act (GINA) of 2008 (Public Law 110-233) prohibits health insurance companies and employers from discriminating based on genetic test results. However, at this time, laws do not protect against discrimination for long term care, disability or life insurance.